Canonical Allele Identifier: CA2580089587

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411324del , CM000677.2:g.48411324del	GRCh38
NC_000015.9:g.48703521del , CM000677.1:g.48703521del	GRCh37
NC_000015.8:g.46490813del	NCBI36
NG_008805.2:g.239465del , LRG_778:g.239465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1090del	ENSP00000453958.2:n.*1090del
ENST00000674301.2:c.*1795del	ENSP00000501333.2:n.*1795del
ENST00000682158.1:n.1663del
ENST00000682170.1:n.2463del
ENST00000682767.1:n.1579del
ENST00000316623.10:c.8282del MANE Select	ENSP00000325527.5:p.Thr2761LysfsTer18
ENST00000674301.1:c.3448del	ENSP00000501333.1:n.3448del
ENST00000316623.9:c.8282del	ENSP00000325527.5:p.Thr2761LysfsTer18
ENST00000559133.5:c.3651del
ENST00000561429.1:n.537del
NM_000138.4:c.8282del , LRG_778t1:c.8282del	NP_000129.3:p.Thr2761LysfsTer18
NM_000138.5:c.8282del MANE Select	NP_000129.3:p.Thr2761LysfsTer18